Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn... |
ORPHA:85198 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxi... |
OMIM:616471 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... |
OMIM:241600 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb... |
OMIM:600175 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay... |
OMIM:600969 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar creases |
ORPHA:1116 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Scoliosis, Clinodactyly of th... |
ORPHA:3268 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Hypoa... |
ORPHA:79320 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short... |
ORPHA:75840 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short met... |
ORPHA:93307 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia, Scoliosis, Joint hypermobility |
OMIM:619013 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Single transverse palmar crease, Tremor, Flexion contracture, Clinodactyly of the 5th finger, Hyp... |
OMIM:608093 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Spinal rigid... |
OMIM:620386 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis... |
OMIM:252605 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:85435 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Hyperlordo... |
OMIM:615290 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla... |
OMIM:616583 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... |
OMIM:618392 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Scoliosis, Dystonia,... |
OMIM:208920 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... |
OMIM:619040 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Abnormal circulating creatine kinase concentration... |
OMIM:618484 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Clubbing of fingers, Clubbing, Hypoalbuminemia |
OMIM:226300 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of t... |
OMIM:184252 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna |
ORPHA:971 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Congenital contractur... |
ORPHA:536516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Diastrophic Dysplasia |
|
Joint dislocation, Bowing of the long bones, Increased bone mineral density, Camptodactyly of fin... |
ORPHA:628 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... |
ORPHA:3098 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna, Short neck |
ORPHA:2233 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphos... |
OMIM:609128 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar verte... |
OMIM:230650 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies... |
ORPHA:2831 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis, Dystonia |
OMIM:616756 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoalbuminemia, Hypoplasia of the femoral head |
OMIM:209950 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Short neck |
OMIM:235255 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... |
OMIM:616730 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Coxa valga, Elbow dislocation, Small hand, ... |
ORPHA:1425 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinovarus, ... |
OMIM:608104 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... |
OMIM:142900 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... |
ORPHA:321 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Upper limb amyotrophy, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617087 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporos... |
ORPHA:2583 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Central Core Disease |
|
Joint laxity, Congenital hip dislocation, Multiple joint contractures, Elevated circulating creat... |
ORPHA:597 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, H... |
OMIM:254090 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:615895 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Short neck |
ORPHA:1655 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Elevated circulating creatine kinase concentration, Coxa valga, Kyphosis, Flexi... |
OMIM:248800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration... |
OMIM:255800 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Talipes... |
OMIM:611890 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ... |
OMIM:616507 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sh... |
OMIM:619638 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Ky... |
OMIM:300280 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Fl... |
OMIM:602471 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality o... |
ORPHA:263463 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:1548 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... |
OMIM:610915 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Proximal... |
OMIM:618138 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... |
OMIM:253000 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Flexion c... |
OMIM:222765 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Small hand, Short foot, Joint contracture of the hand, Cutaneous finger syndactyly, H... |
OMIM:235510 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Coxa vara, Contract... |
OMIM:616716 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... |
ORPHA:93316 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Hyperlordo... |
ORPHA:1328 |
Masa Syndrome |
|
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis |
OMIM:303350 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... |
ORPHA:15 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ... |
OMIM:100800 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... |
ORPHA:2167 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... |
OMIM:616267 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing... |
OMIM:612350 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine, In... |
ORPHA:48431 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Alg12-Cdg |
|
Hyponatremia, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers... |
ORPHA:79324 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality... |
ORPHA:56305 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Clubbing, Flared iliac wing, Hypoalbuminem... |
OMIM:617303 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spi... |
ORPHA:582 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... |
ORPHA:1307 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis, Dystonia |
OMIM:617435 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r... |
ORPHA:171436 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor... |
OMIM:300602 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal def... |
OMIM:253010 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp... |
ORPHA:178148 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... |
OMIM:610968 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas... |
ORPHA:61 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... |
OMIM:618291 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Tremor, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Intentio... |
OMIM:212065 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... |
OMIM:606612 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... |
ORPHA:29073 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... |
OMIM:242150 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Limb dystonia, Kyphosis, Upper limb hypertonia, Joint hyperflexibility |
ORPHA:319199 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Aicardi-Goutieres Syndrome 9 |
|
Osteoporosis, Hypoalbuminemia, Scoliosis, Dystonia |
OMIM:619487 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Martsolf Syndrome 1 |
|
Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Metatarsus adductus, Sl... |
OMIM:212720 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Generalized dystonia, Oculogyric crisis, Femoral retroversion, Kyphoscolios... |
OMIM:607371 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility,... |
ORPHA:3101 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Kyphosis, Scoliosis |
ORPHA:101078 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... |
ORPHA:98855 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Torticollis, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysp... |
OMIM:181405 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Dystonia, Tremor, ... |
OMIM:277900 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Poorly o... |
OMIM:619135 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Kyphoscoliosis, Decreased LDL cholesterol co... |
ORPHA:14 |
Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Abnormal circulating... |
ORPHA:3191 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulna... |
OMIM:121050 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... |
ORPHA:1452 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthrit... |
OMIM:108300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:619055 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... |
ORPHA:98863 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr... |
OMIM:108145 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... |
OMIM:212780 |
Baralle-Macken Syndrome |
|
Kyphosis, Dystonia, Tapered finger |
OMIM:619255 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
Omodysplasia 2 |
|
Short humerus, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal humeri, Limited el... |
OMIM:164745 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro... |
ORPHA:167 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... |
ORPHA:2050 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Abnormal form of the vertebr... |
ORPHA:2769 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... |
OMIM:271510 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture ... |
OMIM:251300 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... |
ORPHA:247353 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand... |
ORPHA:958 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Dystonia |
OMIM:618237 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Dystonia, Upper limb hypertonia, Joint hyperflexibility |
OMIM:614898 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hypoalbuminemia, Hip dislocation, Camptodactyly |
OMIM:617729 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... |
ORPHA:98853 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... |
ORPHA:3219 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor... |
ORPHA:238750 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Kyphosis, Narrow palm, Congenital contracture, Joint contracture of the... |
ORPHA:352490 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Clubbing |
OMIM:174900 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
OMIM:615084 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin... |
ORPHA:36234 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Narrow palm, Short... |
OMIM:615547 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Short neck, Hypopl... |
OMIM:228520 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Wieacker-Wolff Syndrome |
|
Dystonia, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Cong... |
OMIM:314580 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Deep pal... |
ORPHA:505248 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Scoliosis |
OMIM:610965 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:85317 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Bow... |
OMIM:200600 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Kyphosis, Achilles tendon... |
OMIM:620351 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Hyper... |
ORPHA:2479 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,... |
OMIM:600920 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios... |
OMIM:252500 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... |
OMIM:154780 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc... |
ORPHA:1005 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arthrogryposis mul... |
OMIM:615834 |
Sialidosis Type 2 |
|
Tremor, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Decreased serum zinc, Hypoalbuminemia, Decreased circu... |
ORPHA:89842 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ... |
ORPHA:536532 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... |
OMIM:616294 |
Atypical Rett Syndrome |
|
Tremor, Kyphosis, Small hand, Short foot, Pill-rolling tremor, Scoliosis, Dystonia |
ORPHA:3095 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla... |
OMIM:304150 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal form of the... |
ORPHA:2876 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la... |
ORPHA:763 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis |
ORPHA:1545 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology |
ORPHA:2522 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal fibula morpholog... |
ORPHA:3035 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Opisthotonus, Nar... |
ORPHA:508533 |
Cousin Syndrome |
|
Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ... |
OMIM:260660 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, S... |
OMIM:613658 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis |
OMIM:255200 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc... |
ORPHA:64755 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Hyperlip... |
ORPHA:254346 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Joint dislocation,... |
ORPHA:221016 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Juvenile Polyposis Of Infancy |
|
Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Broad phalanx of the... |
ORPHA:79076 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Hyperuricemia |
ORPHA:261222 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Tremor, Kyphosis, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis, Dystonia |
ORPHA:464282 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Tremor, ... |
ORPHA:85293 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Kyphosis, Scoliosis |
ORPHA:99014 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Hypoalbuminemia, Action tremor, Intention tremor |
OMIM:254900 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Hand tremor, Ankle clonus, Head tremor, Scoliosis |
OMIM:614409 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short toe, Brachydactyly, Hyperlordosis |
ORPHA:3085 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... |
ORPHA:536467 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... |
OMIM:301041 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
ORPHA:352447 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast... |
OMIM:119600 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... |
ORPHA:3144 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Short neck, Coxa vara, Wrist flex... |
ORPHA:800 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosis, Part... |
ORPHA:476126 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Flexion contracture, Ankle clonus, Scoliosis |
OMIM:609541 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T... |
ORPHA:2215 |
Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, Sho... |
OMIM:270400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... |
OMIM:259770 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... |
OMIM:253220 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypo... |
ORPHA:2909 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Metaphyseal sclero... |
ORPHA:221008 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Flexion contract... |
OMIM:130070 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta... |
ORPHA:536471 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa... |
ORPHA:666 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co... |
OMIM:309350 |
Trichohepatoenteric Syndrome 1 |
|
Avascular necrosis of the capital femoral epiphysis, Increased serum iron, Hypoalbuminemia, Hyper... |
OMIM:222470 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Palmoplantar keratoderma |
OMIM:615508 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Elbow dislocation, Patellar dislocation, Short palm, Short 1st metacarpal |
ORPHA:93328 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Split hand, Hemiver... |
OMIM:200980 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... |
OMIM:169400 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sin... |
OMIM:619951 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Tremor, ... |
ORPHA:354 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H... |
ORPHA:90041 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... |
OMIM:607014 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morp... |
ORPHA:94065 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Anterior concavity of thoracic verte... |
OMIM:249420 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Short neck, Genu valgum, Deep palmar crease, Palmoplantar keratoderm... |
ORPHA:1340 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte... |
ORPHA:2021 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... |
OMIM:619991 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... |
OMIM:314390 |
Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... |
ORPHA:236 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior beaking of lumbar ve... |
ORPHA:93 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... |
OMIM:617604 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:816 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:617190 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Single transverse palmar crease, Scoliosis |
OMIM:300861 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Flynn-Aird Syndrome |
|
Kyphosis, Bone cyst, Scoliosis, Joint stiffness |
ORPHA:2047 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Talipes equi... |
OMIM:248700 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Hypocalcemia, Talip... |
OMIM:607143 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Hypotriglyceridemia, Hypoalbuminem... |
ORPHA:2298 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... |
OMIM:618443 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Abnormal vertebral morphology, Elb... |
ORPHA:95699 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination of forearm, Radiou... |
ORPHA:293843 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:2471 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Tremor, Kyphosis, ... |
OMIM:617061 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... |
ORPHA:261318 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Tremor, Kyphosis, Choreoathetosis, Talipes equinovarus, Scoliosis, Dystonia, Han... |
OMIM:617988 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... |
OMIM:276820 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat... |
ORPHA:99826 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Abnormal ti... |
ORPHA:2879 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... |
OMIM:210710 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long palm, Scoliosis |
OMIM:300676 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hypoalbuminemia, Palmar telangiectasia, Osteoporosis |
ORPHA:171 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Juvenile Polyposis Syndrome |
|
Clubbing of fingers, Hypoproteinemia |
ORPHA:2929 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Narrow palm, Slender toe... |
ORPHA:193 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Limited ... |
OMIM:258315 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio... |
OMIM:603116 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Jo... |
OMIM:619381 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Rett Syndrome |
|
Short foot, Kyphosis, Scoliosis, Dystonia |
OMIM:312750 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... |
ORPHA:404440 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, Kyphosis, Contracture of the dis... |
OMIM:607015 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc... |
OMIM:618493 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ... |
ORPHA:1855 |
Pelizaeus-Merzbacher Disease |
|
Joint stiffness, Kyphosis, Choreoathetosis, Scoliosis, Dystonia |
ORPHA:702 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo... |
OMIM:139210 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Single... |
ORPHA:521426 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... |
ORPHA:3378 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Recurr... |
ORPHA:955 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Dystonia |
ORPHA:500180 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ... |
OMIM:263650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Short neck, Tremor, Kyphosis, Talipes cavus equinovarus, Prominent pro... |
OMIM:300966 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal... |
ORPHA:2789 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Small hand, Osteoporosis, Narrow palm, Genu valgum,... |
OMIM:176270 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Increased circulati... |
OMIM:619534 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
3C Syndrome |
|
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Abnormal hip... |
ORPHA:7 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Sialidosis Type 1 |
|
Tremor, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ... |
OMIM:616145 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility |
OMIM:619718 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Mesomel... |
OMIM:616482 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Torticollis, Kyphosis, Scoliosis, Joint contracture |
OMIM:609029 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited... |
OMIM:619745 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the hand, Kyphosis,... |
OMIM:203800 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hypotrophy of the small hand ... |
OMIM:610443 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:2075 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Short neck, Proximal placement of thumb,... |
ORPHA:199 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar... |
OMIM:617527 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Dystonia, Ove... |
OMIM:619708 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap... |
ORPHA:1507 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, H... |
ORPHA:96334 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus... |
ORPHA:261349 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, J... |
OMIM:617602 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2... |
ORPHA:464738 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Finger syndactyly, Scoliosis, Genu varum |
ORPHA:1969 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... |
OMIM:130720 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long... |
OMIM:616914 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Ovoid thoracolumbar vertebr... |
ORPHA:3404 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8... |
ORPHA:401973 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Tremor by anatomical site |
ORPHA:97349 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan... |
OMIM:616894 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Kyphosis, Genu recurvatum, Scoliosis |
ORPHA:364028 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... |
OMIM:230500 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
Stickler Syndrome |
|
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation... |
ORPHA:828 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowi... |
OMIM:201750 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Arm dystonia, Scoliosis |
ORPHA:88644 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios... |
OMIM:301040 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Lim... |
ORPHA:576 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long fingers, Reduced thyr... |
ORPHA:79318 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur... |
OMIM:619194 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Broad palm, Short foot, Short lo... |
OMIM:269860 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Kyphosis, Coronal craniosynostosis, Delayed cranial suture ... |
ORPHA:85199 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Split hand, Flexion contracture, Tracheobronchomalacia |
OMIM:309900 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Single transverse palmar crease, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Kyphosis |
OMIM:619909 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Hip dysplasia, Proximal placement of thumb, Scoliosis |
ORPHA:261250 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Athetosis, Talipes equinovarus, Scoliosis, Dystonia |
OMIM:613454 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Abnormal... |
ORPHA:2461 |
Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli... |
ORPHA:280 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, P... |
ORPHA:77301 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip di... |
ORPHA:534 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... |
ORPHA:818 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Kyphosis, Ankle clonus, Scoliosis |
OMIM:211530 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Scoliosis |
ORPHA:90322 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Single transverse palmar cre... |
OMIM:194190 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
Cowden Syndrome 5 |
|
Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615108 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Metat... |
OMIM:259050 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bones, Delayed cranial suture c... |
OMIM:278250 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... |
ORPHA:3063 |
Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Tremor, Scoliosis |
ORPHA:58 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis |
OMIM:617011 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m... |
ORPHA:99226 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... |
OMIM:303600 |
Cowden Syndrome 6 |
|
Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615109 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Kyphosis, Polydactyly... |
ORPHA:464306 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Choreoathetosis, Polydac... |
ORPHA:17 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... |
ORPHA:464311 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly... |
ORPHA:363958 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
Micro Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint... |
ORPHA:457359 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Elbow flexion contract... |
OMIM:117650 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Tremor, Abnormal form of the vert... |
ORPHA:904 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Tremor, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Widely patent fon... |
ORPHA:3455 |
Cowden Syndrome 1 |
|
Intention tremor, Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:158350 |
Atelis Syndrome 2 |
|
Clinodactyly, Kyphosis, Sacral dimple, Single transverse palmar crease |
OMIM:620185 |
Cockayne Syndrome B |
|
Tremor, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of... |
OMIM:133540 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula... |
OMIM:256040 |
Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Hypertriglyceridemia, Short femur, Delayed closure of the anterior fonta... |
OMIM:264090 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Increased femoral anteversion, Scoliosis |
OMIM:619005 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis, Synostosis of the proxi... |
OMIM:300967 |
Cockayne Syndrome A |
|
Hip contracture, Tremor, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the phalanges... |
OMIM:216400 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Joint stiffn... |
ORPHA:744 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Joint laxity, Torticollis, Osteomyelitis, Isometric tremor, Single transverse palmar c... |
OMIM:619475 |
Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:963 |
Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:314769 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis... |
OMIM:617140 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Abnormal hip bone... |
ORPHA:636 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Short neck, Aplasia... |
OMIM:268300 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia of t... |
OMIM:135900 |
Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia |
ORPHA:1393 |
Cowden Syndrome |
|
Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Brachydactyly |
ORPHA:201 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Dystonia |
OMIM:615512 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger |
OMIM:618367 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... |
ORPHA:97685 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4... |
ORPHA:268261 |
Cockayne Syndrome |
|
Kyphosis, Contractures of the large joints, Congenital contracture, Abnormal epiphysis morphology... |
ORPHA:191 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis, Generalized dystonia |
ORPHA:171629 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Short foot, Hip dyspla... |
ORPHA:1606 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Plat... |
ORPHA:2273 |
Sotos Syndrome |
|
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture,... |
ORPHA:821 |
Tetrasomy 9P |
|
Joint dislocation, Sacral dimple, Hypoplastic scapulae, Short neck, Small hand, Arthritis, Talipe... |
ORPHA:3310 |
Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis |
OMIM:266270 |
Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaking of ... |
OMIM:208400 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Flexion contracture, Scoliosis, Intention tremor |
ORPHA:90324 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Viss Syndrome |
|
Long toe, Joint laxity, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Joint hy... |
OMIM:619472 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis... |
OMIM:113620 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Alström Syndrome |
|
Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Short toe, Hyperostosis front... |
ORPHA:64 |